Yael's Story

What's wrong with Maxi?

The Diagnostic Odyssey

Who am I? I am just a mum, there is not
much special about me, but my youngest son, he is special, special
in the sense that he has a unique condition, which has baffled
doctors from here and all over the world. Indeed his
condition is unique but as you are well aware, this is a common
problem; to be undiagnosed.

Maximus was born a healthy, full
term baby weighing, 7"9', and showed no signs of illness until a
tumour appeared on his cornea at 9 months of age. Since then, for
the past 21 months and still today Maximus is being treated here at
the Royal Children's Hospital, for a yet to be diagnosed medical
condition. In short, this has presented with an eye tumour,
brain lesions and abnormalities and sudden unexplained weight gain.
He also suffers from unexplainably high blood pressure, fatigue,
unsteady gross motor skills, skin lesions & vascular
malformations.

This journey has obviously been a
struggle for us on many levels, from the initial stages of grasping
to come to terms with what this all means. I wish to expand
on this; these are the questions that come to mind.

When you are told your child is
undiagnosed and has brain tumours, what does this all mean?
Does it mean he is in grave danger? What does the future
hold? Does it mean he is incurable? Is this reversible? Is
this degenerative? What weapons are we armed with in this
war? Will we ever know? Will future generations in our
family be affected? Where has this come from?

Perhaps I am too pragmatic to ask
why us? Or is it my fault? These are things that never
occurred to me until people started saying, why you? And you know
it's not your fault?

Innately I want to protect and care
for my children as best I can, however if they are ill this is not
my fault, I wanted to make a point of this because - it's not your
fault either. It is clearly difficult and frustrating for you
when you cannot find answers for families that are so desperately
searching for answers.

Our anguish as parents of our boy
is more about what can we do? What can we as parents do to assist
specialists with relevant information and be treated by those
specialists as a respected resource?

We are in a sense the instinctive
specialist's of our child. For example, my son didn't look or act
ill when I brought him into emergency, but being his mother, I knew
he had regressed and something was not right. I had grave
fears for my son and it had taken many months for others (including
family members) to see the changes that I saw. So there were
also issues around the fact that there was much
disbelief.

Another example of this is the
waves of fatigue Maximus experiences. On one visit to his
neurologist he was running up and down the hall and seemed to be
quite able to control all his gross motor function well, whereas on
another visit he was fatigued when seeing a team of dermatologists
where he lay floppy and allowed each of them to examine him without
moving a muscle. They wanted to take him to emergency downstairs
because he was floppy, I had to explain he was just fatigued.
So my point is he presents differently each day, and examining him
for 20 minutes is never going to give the clear picture that a
parent who spends 24 hours a day watching the child with interest
can provide.

Although as parents we can provide
emotional and nurturing support to our children, we are not experts
in the field of their illness. That is where the relationship is so
important between us and the specialists, we need to respect that
they also made decisions based on their knowledge which is much
more technical and profound than what we see on the outside with
behaviour and movement.

The most pressing and concerning
problem we face with Maximus is; no matter how little he eats, he
gains weight uncontrollably. In the past two months alone
Maxi gained 3 kgs.

What does genetics mean to
me?

So what does genetics mean to us?
It means everything! It's the only thing! It is what we
believe in, our saviour, our big G word.

We believe that without this our
son has less chance of diagnosis or cure, this is our only
hope.

Genetics research has and continues
to change lives of many who have been lucky enough to access the
technology.

My personal concern is that our son
is regressing daily and therefore there is a time issue when it
comes to narrowing down on what is causing his condition.
Without a cause there is no definitive cure. Why do these
tests take so much time?

Maximus has been a case of much
interest to many disciplines in this hospital, however three areas
that may hold crucial answers to his condition are endocrine,
metabolic and genetic, all of which have arrived at a
stalemate.

This is how I see the road they are
on; first they had to rule out the obvious causes of his
presentations, several nasty diseases were ruled out by the three
departments. The next step is where the bridge collapsed.
Some referred to it as being like searching for a needle in a
haystack. Others just frankly stated that they have run out
of ideas and no longer know what to test for.

So that leaves Maximus with no
diagnosis and no further clues as to where to go next. I
understand that this comes down to one major issue; money. It
obviously starts to cost too much money to get these tests done,
this is only one patient in a hospital of hundreds of thousands of
patients, they understandably cannot justify this kind of spending
without being very certain of what they are testing
for.

Or does Genome sequencing mean
these tests do in fact exist but they are not attainable to the
average 2.5 year old from Melbourne? You can probably
imagine how this feels for us; helplessness is one word that comes
to mind.

If it is true that rare and
undiagnosed diseases may hold the key and clues to many other
medical mysteries, then this should be a priority that provision of
extensive tests for these most rarer presentations be
supported.

Will genetics give us some
answers

I won't profess to understanding
how it works or the politics, all I can say is I wish genetics were
able to do more for my son, as I believe the answers are out there
somewhere.

I have often wondered why my
partner, my elder son, nor I have been approached for genetic
testing to assist in Maxi's case, I wonder if I have missed
something obvious or relevant reason why in this case this is not
considered a necessary measure.

I value and respect all genetic
scientists as this is a breakthrough era of this science and being
part of it must be very exciting. I have enjoyed stories that
I have found through my research by NIH Rare Disease Program and
seen with my own eyes the difference they have made to people and
how it has then helped them understand broader public health issues
as a result.

This is not where it all ends or
starts either. If by miracle a diagnosis is made, in the cases
where genetic scientists have found creating orphan drugs will help
save a life, they have not been able to pass it through the
stringent rules in government in a timely manner. So there
are many roadblocks in this area, which is understandable as there
is also cultural and ethical opinions that weigh heavily on this
industry.

Medicine is something we believe in
wholeheartedly, accessing the best possible care is what all
parents desire, we are hopeful genetics can invest in our boy and
others like him, before it's too late.

Our campaign

Always wanting to do more; when we
were told that a brain biopsy of the lesions in his corpus callosum
was an imminent possibility, we launched a public social media
campaign to try and find out what's wrong with Maxi.

Our website which is called whatswrongwithmaxi.com,
has had over 10,000 hits and Maxi has also been the subject of a
couple of media stories. We continue our search and have recently
begun the process with the blessings of his doctors to apply for
the Undiagnosed Disease Program in Maryland. If he is accepted,
which is a long shot, I am confident that genome sequencing will be
part of their testing.

In summary I want to highlight that
whilst facing our own struggles with having an undiagnosed son, we
also see the struggles that the genetics field faces when it comes
to treating our son in an effective and timely
manner.

We have full confidence in the
world class doctors treating Maximus at RCH, and feel we are in the
best hands we could be, given this is a teaching hospital and there
are so many resources available. We are also aware that there
is little chance even with genome sequencing that we will ever know
what is wrong with our son, but when faced with something so
frightening threatening our baby's life, we must leave no stone
unturned.

Thank you for this opportunity to
share my story and experience.

For an update on Maxi, read the
Seven news article 'US trial next step in search for a cure for
Maxi' here.